Хайлтын үр дүнгүүд - Bodamer, Olaf

Newborn Screening for Lysosomal Storage Disorders -н Peake, Roy W. A., Bodamer, Olaf A.

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Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients -н Kritzer, Amy, Siddharth, Aishwarya, Leestma, Kate, Bodamer, Olaf

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Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes -н Orenstein, Marissa, Barbouth, Deborah, Bodamer, Olaf A, Weinreb, Neal J

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Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) -н Bodamer, Olaf, Scarpa, Maurizio, Hung, Christina, Pulles, Tom, Giugliani, Roberto

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The tale of two genes: from next-generation sequencing to phenotype -н Rohanizadegan, Mersedeh, Siddharath, Aishwarya, Retterer, Kyle, Hung, Christina, Bodamer, Olaf

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Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life -н Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Bjornsson, Hans Tomas

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Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry -н Legnini, Elisa, Orsini, Joe J., Mühl, Adolf, Johnson, Britt, Dajnoki, Angela, Bodamer, Olaf A

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Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity -н Boy, Nikolas, Heringer, Jana, Brackmann, Renate, Bodamer, Olaf, Seitz, Angelika, Kölker, Stefan, Harting, Inga

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The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases -н Ebrahimi‐Fakhari, Darius, Hildebrandt, Clara, Davis, Peter E., Rodan, Lance H., Anselm, Irina, Bodamer, Olaf

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Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? -н Peake, Roy W.A., Marsden, Deborah L., Bodamer, Olaf A., Gelb, Michael H., Millington, David S., Wijburg, Frits

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Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disord... -н Orsini, Joseph J., Martin, Monica M., Showers, Amanda L., Bodamer, Olaf A., Zhang, X. Kate, Gelb, Michael H., Caggana, Michele

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Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study -н Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.

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Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study -н Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.

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Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation -н Wright, Alec, Hall, Arielle, Daly, Tara, Fontelonga, Tatiana, Potter, Sarah, Schafer, Caitlin, Lindsley, Andrew, Hung, Christina, Bodamer, Olaf, Gussoni, Emanuela

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Bridging the Gaps Between the Histopathological and Demographic Risk Factors of Preterm Birth in a Unique Miami Inner-City Population -н Veerapen, Muthu Kumar, Pelaez, Liset, Potter, JoNell Efantis, Duthely, Lunthita, Birusingh, Rhea, Rampersaud, Evadnie, Bodamer, Olaf A, Rodriguez, Maria Matilde

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Neuroimaging in Kabuki syndrome and another KMT2D-related disorder -н Stadelmaier, Rachel T., Kenna, Margaret A., Barrett, Devon, Mullen, Thomas E., Bodamer, Olaf, Agrawal, Pankaj B., Robson, Caroline D., Wojcik, Monica H.

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Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cell... -н Li, Luyuan, Paz, Ana C., Wilky, Breelyn A., Johnson, Britt, Galoian, Karina, Rosenberg, Andrew, Hu, Guozhi, Tinoco, Gabriel, Bodamer, Olaf, Trent, Jonathan C.

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Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure -н Rohanizadegan, Mersedeh, Abdo, Sara M., O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf

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Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots -н Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A

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The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus -н Muenzer, Joseph, Bodamer, Olaf, Burton, Barbara, Clarke, Lorne, Frenking, Gudrun Schulze, Giugliani, Roberto, Jones, Simon, Rojas, Maria Verónica Muñoz, Scarpa, Maurizio, Beck, Michael, Harmatz, Paul

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